Sipponen P, Similä S, Collan Y, Autere T, Herva R
Arch Dis Child. 1978 Aug;53(8):664-7. doi: 10.1136/adc.53.8.664.
Two sisters who died at the age of 2.5 years and 5 weeks are described. Both showed signs of panhypopituitarism. At necropsy, no hypophysis could be found in the first child and a rudimentary and partly ectopic hypophysis was found in the other. Both children had a flat, poorly developed sella turcica, and the sellar anomaly could be seen in skull x-rays. These patients represent a hereditary syndrome characterised by neonatal panhypopituitarism, hypoplasia of the pituitary gland, and flat sella turcica.
本文描述了两名分别在2.5岁和5周时死亡的姐妹。两人均表现出全垂体功能减退的症状。尸检时,第一个孩子未发现垂体,另一个孩子发现了一个发育不全且部分异位的垂体。两个孩子的蝶鞍均扁平且发育不良,蝶鞍异常在颅骨X光片中可见。这些患者代表了一种以新生儿全垂体功能减退、垂体发育不全和蝶鞍扁平为特征的遗传综合征。